Ask about this productRelated genes to: RIMS2 antibody
- Gene:
- RIMS2 NIH gene
- Name:
- regulating synaptic membrane exocytosis 2
- Previous symbol:
- RAB3IP3
- Synonyms:
- KIAA0751, RIM2, OBOE
- Chromosome:
- 8q22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-04-29
- Date modifiied:
- 2016-11-01
Related products to: RIMS2 antibody
Related articles to: RIMS2 antibody
- Zinc finger proteins (ZNFs), characterized by zinc ion-binding domains, participate in cell proliferation, differentiation, and metastasis in lung adenocarcinoma (LUAD). However, associations between ZNFs-related genes and clinical outcomes, immune cell infiltration, and immunotherapy remain unclear. To explore feasibility of using ZNFs-related genes as prognostic tools for LUAD risk stratification. Retrospective analyses were conducted utilizing data from TCGA and GSE26939. After screening differentially expressed ZNFs, regression analyses were performed to construct prognostic signature. Enrichment analysis identified biological processes and pathways involved in signature genes, while immune landscape was examined by multiple algorithms. The drug sensitivity analysis identified potential candidate drugs related to the signature genes. Cell experiments indicated the function of the key risk gene CTCFL in promoting the malignant behavior of LUAD cells. A prognostic signature comprising 12 ZNFs-related genes (CBFA2T3, CTCFL, GFI1B, IGF2BP1, RIMS2, TRIM29, TRIML2, ZIC2, ZNF208, KLF10, ZNF750, and ZNF257) stratified LUAD patients into two risk groups, demonstrating robust performance in predicting clinical outcomes. These genes were significantly enriched in epidermal development, intermediate filament cytoskeleton, endopeptidase inhibitor activity, hormone activity, and neuroactive ligand-receptor interactions. Low-risk patients exhibited higher levels of immune cell infiltration (e.g., DCs, B cells, and neutrophils) and superior responses to immunotherapy (anti-CTLA-4 and PD-1/CTLA-4 dual blockade). Possible therapeutic compounds for LUAD patients included SHP-099, Dimethylfasudil, EMD-534085, and PF-2771. The expression of CTCFL enhanced the malignant cellular behavior in LUAD. ZNFs-related gene signature provides predictive insights into LUAD patient survival, immune cell infiltration, and immune checkpoint blockade therapy, serving as a valuable tool to guide clinical decision-making. - Source: PubMed
Publication date: 2026/06/26
Zou MiZheng GuangdaBao Yanju - Hybridization is a powerful evolutionary force for genetic improvement, conferring growth advantages and enhanced disease resistance. However, molecular basis of heterosis, especially when mediated by brain-derived neural regulation, remains unclear. To elucidate this, comparative brain transcriptome analysis was performed on red crucian carp, white crucian carp, their hybrid WR, and the backcross-improved WR-II. Our results revealed significant transcriptional changes between parents and their hybrids, leading to the identification of widespread differentially expressed genes (DEGs). Hierarchical clustering and quantitative mid-parent value analysis of DEGs revealed additive expression patterns in WR, whereas WR-II exhibited maternal bias in expression patterns. These DEGs were significantly enriched in pathways related to immune response, neural development, synaptic signaling, and insulin regulation. Weighted gene co-expression network analysis identified eight modules; one module significantly correlated with WR-II (r > 0.5, p < 0.01) contained the highest number of hub genes, totaling 71 (absolute kME value > 0.9). Protein-protein interaction network further highlighted key hub genes in WR-II, including NeuroD1, Rims2, KCND3, Gpc3, and MAPK13, exhibiting above the higher parent expression compared to parents. The encoded proteins form integrated networks central to insulin synthesis and secretion, neuronal excitability, growth regulation, and immune modulation. These findings provide new insights into neural mechanisms that contribute to heterosis in fish. - Source: PubMed
Publication date: 2026/05/26
Li RuZhang JipengWang JunZhou YiWang ChenghuiLiu Dong - Progression from Parkinson's disease (PD) to Lewy body dementia is a major clinical concern. Although several progression-associated loci have been identified, their cumulative effects on cognitive decline have not been systematically evaluated. To assess the dose-dependent effect of five candidate progression loci linked to synaptic vulnerability (RIMS2, TMEM108, GBA1) and amyloid-tau pathology (APOE, WWOX), we analyzed 7745 participants from 24 cohorts with 28,737 longitudinal visits over 15 years using random-effects meta-analyses of cohort-specific Cox proportional hazards models. Dementia risk increased monotonically with the number of progression loci (0, 1, 2, or ≥3). A single locus conferred a 1.56-fold increase in risk (hazard ratio (HR) = 1.56, 95% CI: 1.28-1.89), rising to 3.21-fold for two loci (HR = 3.21, 95% CI: 2.19-4.70) and 7.49-fold for three or more loci (HR = 7.49, 95% CI: 4.98-11.28). Individually, GBA1 (HR = 2.09), APOE ε4 (HR = 1.71), RIMS2 (HR = 1.90), TMEM108 (HR = 2.05), and WWOX (HR = 1.56) were associated with dementia risk, but there was heterogeneity between clinical trials, biomarkers, and population-based cohorts. Multi-locus dosage increases dementia risk in a monotonic manner and may improve stratification and clinical trial design in PD. - Source: PubMed
Publication date: 2026/05/14
Kang XiaoyingLin ZechuanCalikusu Fatma ZehraMiller Lauren ASoriano SofiaLocascio Joseph JCorvol Jean-ChristopheMaple-Grødem JodiFan YangyiMead KaraCampbell Meghan CElbaz AlexisLesage SuzanneBrice AlexisHung Albert YSchwarzschild Michael AHayes Michael TWills Anne-MarieHerrington Todd MLiu GanqiangRavina BernardTaba PilleKõks SulevSimuni TanyaForsgren LarsCounsell CarlMacleod Angus DBeach Thomas GAlves GuidoTysnes Ole-BjørnPerlmutter Joel SHeutink PeterKasten MeikeMollenhauer BritTrenkwalder ClaudiaKlein ChristineHepp Dagmar HBackstrom DavidSvenningsson PerHu Michele TWilliams-Gray Caroline HBarker Roger A Scherzer Clemens R - Previous studies have illuminated a significant genetic component in motor neuron disease (MND) pathogenesis, with several causative genes identified. However, a substantial proportion of MND cases remain genetically unexplained, particularly regarding the comprehensive contribution of rare, high-impact variants across the exome. - Source: PubMed
Publication date: 2026/01/09
Hu ZhenWan Jing-JinYan Qin-QinFan YuLiu Jun - Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormal social interactions, verbal communication difficulties, and restricted repetitive behaviors. Identifying the underlying genetic factors is crucial because of the complex genetic and environmental etiology. In this study, we performed whole-exome sequencing (WES), whole-genome sequencing (WGS), and array comparative genomic hybridization (aCGH) of four Iranian families with ASD-related conditions to identify novel genomic alterations. Five previously undescribed mutations were identified in these families. Family 1: A homozygous 290.7 kb deletion CNV (chr8:103,652,204-103942926; hg38) encompassing exons 2-16 of RIMS2 (NM_001348484), confirmed in a 7-year-old male proband with developmental delay and cone-rod synaptic disorder. Family 2: A heterozygous nonsense mutation in FOXG1 (NM_005249.5:c.839C > A; p.Ser280Ter) in a 6-year-old female with Rett-like features, resulting in a truncated protein lacking corepressor domains. Family 3: A splice donor site mutation in AUTS2 (NM_015570.4:c.742 + 1G > C) in a 10-year-old female with ASD and Attention-deficit/hyperactivity disorder, generating a frameshift and premature stop codon affecting mRNA-binding functionality. Family 4: A heterozygous nonsense mutation in ZCCHC17 (NM_016505.4:c.220C > T; p.Arg74Ter) and a splicing variant in SPTBN5 (NM_016642.4:c.3470 + 2T > A) in two male siblings with ASD were predicted to result in truncated proteins and aberrant splicing. Pathogenicity was supported through in silico analyses and structural modeling using I-TASSER, and segregation was confirmed using Sanger sequencing. This study highlights the genetic diversity of ASD and underscores the importance of advanced sequencing technologies in identifying novel mutations. Our findings contribute to the growing body of knowledge regarding the genetic basis of ASD, paving the way for personalized treatment strategies and early diagnosis. - Source: PubMed
Publication date: 2025/08/16
Mirahmadi MaryamKahani Seyyed MohammadSharifi-Zarchi AliFirouzabadi Saghar GhasemiBehjati FarkhondehGarshasbi Masoud